Canonical Allele Identifier: CA2614197231

Gene: PYGM

Linked Data

• gnomAD v4: 11-64753485-T-TCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753485_64753486insCTC , CM000673.2:g.64753485_64753486insCTC	GRCh38
NC_000011.9:g.64520957_64520958insCTC , CM000673.1:g.64520957_64520958insCTC	GRCh37
NC_000011.8:g.64277533_64277534insCTC	NCBI36
NG_013018.1:g.12230_12231insGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1403+33_1403+34insGAG MANE Select	ENSP00000164139.3:n.1403+33_1403+34insGAG
ENST00000164139.3:c.1403+33_1403+34insGAG	ENSP00000164139.3:n.1403+33_1403+34insGAG
ENST00000377432.7:c.1139+33_1139+34insGAG	ENSP00000366650.3:n.1139+33_1139+34insGAG
NM_001164716.1:c.1139+33_1139+34insGAG	NP_001158188.1:n.1139+33_1139+34insGAG
NM_005609.2:c.1403+33_1403+34insGAG	NP_005600.1:n.1403+33_1403+34insGAG
NM_005609.3:c.1403+33_1403+34insGAG	NP_005600.1:n.1403+33_1403+34insGAG
NM_005609.4:c.1403+33_1403+34insGAG MANE Select	NP_005600.1:n.1403+33_1403+34insGAG